Test Price
2,800 AED✅ Home Collection Available
CEP290 Gene Bardet-Biedl Syndrome Type 14 Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance for result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED includes all technical and logistics fees.
Test Overview & Methodology
The CEP290 Gene Bardet-Biedl Syndrome Type 14 Genetic Test identifies pathogenic variants in the CEP290 gene associated with this multisystem ciliopathy. It is a next-generation sequencing assay designed for confirmation of clinical diagnosis, carrier screening, and family risk assessment.
| Feature | Our Test (CEP290 NGS) | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | Targeted deep sequencing of CEP290 exons and intron boundaries; 99.9% analytical sensitivity | Broad exome coverage, may miss deep intronic variants; lower on‑target coverage for CEP290 |
| Methodology | Next Generation Sequencing (NGS) with Sanger validation | NGS exome capture, often without single‑gene confirmation |
| Turnaround Time | 3–4 weeks | 6–10 weeks, dependent on cascade testing |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403): “NGS-based CEP290 analysis delivers exceptional diagnostic yield in suspected Bardet-Biedl syndrome. However, results must be integrated with comprehensive ophthalmologic, renal, and endocrine evaluations. I strongly advise pre‑test genetic counseling to contextualize findings. Always consult your specialist before making any treatment changes.”
Advisory Notice
Do not discontinue any prescribed medication without consulting your doctor. This genetic test does not replace routine medical monitoring for associated comorbidities such as hypertension or renal impairment.
Exclusion Criteria & Red Flags
Exclusion Criteria:
This test is not indicated for individuals without a confirmed clinical diagnosis or family history suggestive of Bardet-Biedl syndrome or related ciliopathies. Testing of minors requires explicit parental consent as per UAE Federal Law No. 2 of 2019.
Emergency Red Flags: Seek immediate medical attention if you experience sudden vision loss, severe hypertension, oliguria, or signs of acute kidney injury—these may indicate advanced ciliopathy complications unrelated to the test process.
Patient FAQ & Clinical Guidance
1. What is the CEP290 gene and why is it tested for Bardet-Biedl syndrome?
The CEP290 gene encodes a centrosomal protein critical for primary cilia formation. Pathogenic variants cause multi‑organ manifestations typical of Bardet-Biedl syndrome, including retinal degeneration, renal anomalies, and polydactyly. This test detects these variants to confirm diagnosis, guide management, and inform family planning.
2. How accurate is this NGS test compared to traditional methods?
Our NGS assay delivers 99.9% analytical sensitivity for nucleotide substitutions and small insertions/deletions, with Sanger confirmation of all reported variants. This surpasses older Sanger‑only approaches that often miss deep intronic mutations. The test is validated to ISO 15189 standards.
3. Can I use my insurance to cover the 2,800 AED cost?
Direct billing is available for most major UAE insurers. Send your policy details via WhatsApp to +971 54 548 8731 for instant verification before sample collection. Pre‑authorization may be required; our team will assist.
4. How is the sample collected and what is the turnaround time?
A simple peripheral blood draw is performed by our trained phlebotomist at your home or at our facility. The sample is transported via temperature-controlled cold chain. Results are available within 3–4 weeks from sample receipt.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test is performed under DHA Facility License No. 1143 (Dubai Healthcare City). All clinical data is processed in accordance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree-Law No. 4 of 2016 on Medical Liability
Data security measures include encryption, access control, and audit logging. Results are only shared with the ordering physician and patient with explicit consent.
Clinical & Logistical Metadata
| Test Name | CEP290 Gene Bardet-Biedl Syndrome Type 14 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE DNA Labs UAE |
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